Canonical Allele Identifier: CA2424676547
Community Standard Title: NM_000397.4(CYBB):c.252G= (p.Ala84=)
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783600G= , CM000685.2:g.37783600G= GRCh38
NC_000023.10:g.37642853G= , CM000685.1:g.37642853G= GRCh37
NC_000023.9:g.37527797G= NCBI36
NG_009065.1:g.8584G= , LRG_53:g.8584G=

Transcript Alleles

HGVS Amino-acid Change
NM_000397.4:c.252G= MANE Select NP_000388.2:p.Ala84=
ENST00000378588.5:c.252G= MANE Select ENSP00000367851.4:p.Ala84=
NM_000397.3:c.252G= , LRG_53t1:c.252G= NP_000388.2:p.Ala84=
ENST00000378588.4:c.252G= ENSP00000367851.4:p.Ala84=
ENST00000465127.1:c.171+357600G= ENSP00000417050.1:n.171+357600G=
ENST00000696170.1:c.252G= ENSP00000512461.1:p.Ala84=
ENST00000696171.1:c.156G= ENSP00000512462.1:p.Ala52=
ENST00000696172.1:c.252G= ENSP00000512463.1:p.Ala84=
ENST00000696173.1:n.260G=
XM_011543890.1:c.-179G= XP_011542192.1:n.-179G=